Tomorrow (February 28, 2011) will be Rare Disease Day. I know this because my Facebook News Feed is jammed with posts like:
- Mastocytosis – An Orphan Disease
- Raise Your Hand to Fight Rare Diseases
- Mast Cell Activation Syndrome affects more than 150,000 people
- TMS – Mastocytosis on Rare Disease Day
- Rare Disease Day – US
Before I go any further, I would like to remind everyone who stumbles over this blog entry to please click on the button in the graphic to the left. This simple act will cause $1.00 to be donated to support rare disease research, and believe me, it can use every available buck.
Did you manage to click the button and then find your way back here? Good.
I’m glad that the National Organization for Rare Diseases (NORD) and Rare Diseases Europe (EURODIS) have gotten together to celebrate rare diseases on a sometimes-rare day (last day of the month of February). Education and outreach are clearly worthwhile endeavors.
But at the same time, I’m feeling a little more grouchy than early-Spring pollen can justify. I have yet to see anyone on Facebook mention idiopathic anaphylaxis (IA), even though it easily meets the criteria to be considered a rare disease.
A rare disease, here in the United States, is one that affects fewer than 200,000 people. Back in 1995, IA was estimated to affect about 1 in 10,000 patients, which would work out to about 30,700 people, based on the current US population. Other studies have found that anywhere from 6 to 60% of people who have anaphylaxis may not have an identifiable cause for the attack, and since anaphylaxis is considered to be a rare disease, IA must be, too.
But don’t go looking for IA over at the NORD web site. It is not included in their database of rare diseases. Mastocytosis is, and so is anaphylaxis, but even in the brief discussion of anaphylaxis, there is nary a hint given that anaphylaxis could ever occur for other than allergenic (IgE-mediated) reasons. IA is not even listed under the “Disorder Subdivisions” of anaphylaxis.
And if you sashay over to the National Institutes of Health Office of Rare Diseases Research, you will find that neither anaphylaxis nor IA are listed in their database. They list three different variants of mastocytosis and 18 diseases that include the term “idiopathic,” but IA is among the missing.
Meanwhile, the Mastocytosis Society (TMS) is all geared up for Rare Disease day. That organization claims to be a patient support and advocacy group for mastocytosis, IA, and mast cell activation syndrome, but the video Lisa Sterling did for them over on YouTube begins, “Mastocytosis and mast cell activation disorders are rare.” That’s the same terminology used in their mission statement, and unless you just happened to know that IA could be considered a mast cell activation disorder, you would never guess that TMS purports to be educating the public about IA, too.
So here I am, all set to celebrate Rare Disease Day, only my very own personal rare disease hasn’t quite made the cut. Is it any wonder I’m feeling just a little like Mr. Dangerfield? ◊
Tags: IA, idiopathic anaphylaxis, mast cell activation disorders, mastocytosis, Rare Disease Day, Rodney Dangerfield